F513S Summary

KCNH2 F513S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F513S is not present in gnomAD. F513S has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


F513S Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

F513S Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

PAM Score REVEL Score PROVEAN Score Polyphen2 Score BLAST-PSSM
NA 0.794 -6.388 0.888 -2

F513S has 30 neighbors (found in individuals) within 15 ångströms

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms. NOTE: some residues appear multiple times at different distances. This results from the fact that the functional Kv11.1 channel is a homotetramer and occasionally the same residue from multiple subunits is present within the 15A window. All variants shown in the rightmost column have been observed in at least one individual in the literature or gnomAD.

ResidueNumber Distance(Å) Variants
498 14.7
499 14.2
500 13.7 I500Del
501 13.2 D501H D501N D501Y
502 12.6 M502I
503 12
504 11.4 A504V
505 10.7 A505V
506 10.1 I506V
507 9.3 P507L P507S
508 8.5
509 7.6 D509N
510 6.6
511 5.4
512 3.8
514 3.8 G514S
515 5.4
516 6.6
517 7.6
518 8.5
519 9.3
520 10.1
521 10.7
522 11.4 G522E
523 12
524 12.6
525 13.2 K525N
526 13.7
527 14.2
528 14.7 R528P R528W R528X